A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation-Reference-Cited by-同舟云学术

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

Published:2011-09 Issue:5 Volume:54 Page:e501-e504
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bens Susanne,Haake Andrea,Tönnies Holger,Vater Inga,Stephani Ulrich,Holterhus Paul-Martin,Siebert Reiner,Caliebe Almuth

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference13 articles.

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2. A protein-binding domain, EH, identified in the receptor tyrosine kinase substrate Eps15 and conserved in evolution;Wong;Proc. Natl. Acad. Sci. U.S.A.,1995

3. Studies on epidermal growth factor receptor signaling in vertebrate limb patterning;Omi;Dev. Dyn.,2005

4. Pathogenesis of split-hand/split-foot malformation;Duijf;Hum. Mol. Genet.,2003

5. Genes in congenital heart disease: atrioventricular valve formation;Joziasse;Basic Res. Cardiol.,2008

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4. Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome;Annals of Human Genetics;2018-10-10

5. First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation;Clinical Genetics;2018-01-25